WS1
MCID: WRD030
MIFTS: 56

Waardenburg Syndrome, Type 1 (WS1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Waardenburg Syndrome, Type 1

MalaCards integrated aliases for Waardenburg Syndrome, Type 1:

Name: Waardenburg Syndrome, Type 1 57 13 40
Waardenburg Syndrome Type 1 12 76 53 59 29 6 15 73
Ws1 57 12 53 59 75
Waardenburg Syndrome Type I 12 24 59
Waardenburg Syndrome with Dystopia Canthorum 57
Waardenburg's Syndrome Type 1 53
Waardenburg Syndrome, Type I 55
Waardenburg Syndrome 1 75
Waardenburg Syndrome 44

Characteristics:

Orphanet epidemiological data:

59
waardenburg syndrome type 1
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability seen in waardenburg syndrome type 1
other variants of waardenburg syndrome include waardenburg syndrome type 2 , waardenburg syndrome type 3 , and waardenburg syndrome type 4


HPO:

32
waardenburg syndrome, type 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Ws1 showed penetrance of at least 85% [preus et al 1983] before the advent of molecular testing. careful examination of individuals identified on the basis of pedigree analysis as having a pax3 pathogenic variant usually reveals subtle findings (minor criteria). hence, those individuals with an affected first-degree relative should be examined closely as the penetrance is likely almost complete...

Classifications:



Summaries for Waardenburg Syndrome, Type 1

Genetics Home Reference : 25 Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

MalaCards based summary : Waardenburg Syndrome, Type 1, also known as waardenburg syndrome type 1, is related to waardenburg syndrome, type 4a and waardenburg syndrome type 4. An important gene associated with Waardenburg Syndrome, Type 1 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Glucose / Energy Metabolism and Cushing syndrome. The drugs Histamine and Loratadine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related phenotypes are ptosis and scoliosis

Disease Ontology : 12 A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has material basis in heterozygous mutation in the PAX3 gene on chromosome 2q36.

NIH Rare Diseases : 53 Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenitalhearing loss, and patchy pigment disturbances of the iris, hair and skin. Mutations in the PAX3 gene cause the symptoms observed in this condition. Treatment is symptomatic and supportive. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.

OMIM : 57 Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). (193500)

UniProtKB/Swiss-Prot : 75 Waardenburg syndrome 1: WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.

Wikipedia : 76 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...

GeneReviews: NBK1531

Related Diseases for Waardenburg Syndrome, Type 1

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 4a 33.8 SOX10 MITF EDNRB EDN3
2 waardenburg syndrome type 4 33.6 SOX10 MITF EDNRB EDN3
3 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 33.2 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
4 albinism, ocular, with sensorineural deafness 33.0 TYR MITF
5 albinism, ocular, with late-onset sensorineural deafness 31.9 TYR SOX10 MITF
6 waardenburg syndrome, type 3 31.5 SOX10 PAX3 MITF EDN3
7 waardenburg syndrome, type 2e 31.3 SOX10 SNAI2 MITF EDNRB
8 piebald trait 31.2 TYR SNAI2 PAX3 MITF
9 waardenburg syndrome, type 4b 30.9 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
10 waardenburg syndrome, type 2a 30.8 TYR SOX10 SNAI2 MITF EDNRB EDN3
11 microphthalmia 30.2 TYR PAX3 MITF
12 wolfram syndrome 30.2 CISD2 WFS1
13 megacolon 30.0 SOX10 EDNRB EDN3
14 ocular albinism 30.0 TYR MITF
15 hirschsprung disease 1 29.6 SOX10 PAX3 MITF EDNRB EDN3
16 waardenburg's syndrome 29.6 TYR SOX10 SNAI2 PAX3 MITF FN1
17 tietz albinism-deafness syndrome 29.6 TYR SOX10 PAX3 MITF
18 waardenburg syndrome, type 2d 11.1
19 craniofacial-deafness-hand syndrome 11.0
20 albinism, oculocutaneous, type ib 11.0
21 waardenburg syndrome, type 2b 11.0
22 waardenburg syndrome, type 2c 11.0
23 waardenburg syndrome, type 4c 11.0
24 microphthalmia with limb anomalies 11.0
25 anophthalmos with limb anomalies 11.0
26 septooptic dysplasia 10.2
27 childhood kidney cell carcinoma 10.2 PAX3 MITF
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
29 cellular schwannoma 10.2 SOX10 PAX3
30 goldberg-shprintzen syndrome 10.1 EDNRB EDN3
31 pigmented basal cell carcinoma 10.1 TYR MITF
32 hypomelanosis of ito 10.1 TYR MITF
33 epithelioid cell melanoma 10.1 TYR MITF
34 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 TYR MITF
35 fryns microphthalmia syndrome 10.1
36 neurofibroma 10.1 SOX10 MITF
37 dowling-degos disease 1 10.1 TYR MITF
38 hermansky-pudlak syndrome 3 10.1 TYR MITF
39 albinism, oculocutaneous, type iv 10.1 TYR MITF
40 neural tube defects 10.1
41 angiomyolipoma 10.1 TYR MITF
42 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 TYR MITF
43 intestinal pseudo-obstruction 10.1 SOX10 EDNRB
44 wolfram syndrome 2 10.1 WFS1 CISD2
45 myelomeningocele 10.0
46 neuropathy 10.0
47 albinism 10.0
48 colonic disease 10.0 SOX10 EDNRB EDN3
49 intestinal obstruction 10.0 EDNRB EDN3
50 nonsyndromic deafness 10.0 WFS1 PAX3 MITF

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 1:



Diseases related to Waardenburg Syndrome, Type 1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
blepharophimosis
synophrys
laterally displaced inner canthi (dystopia canthorum) (95 to 99%)
increased intercanthal distance
more
Head And Neck Face:
smooth philtrum
decreased philtrum length

Skin Nails Hair Hair:
premature graying of hair
white forelock
bushy eyebrows
white eyelashes and eyebrows

Head And Neck Mouth:
cleft lip/palate
mandibular prognathism

Head And Neck Ears:
congenital sensorineural deafness

Genitourinary Internal Genitalia Female:
absent uterine adnexa (rare)

Neurologic Central Nervous System:
spina bifida (less common)
myelomeningocele (less common)

Head And Neck Nose:
wide nasal bridge
hypoplastic alae nasi
broad, high nasal root
decreased nasal bone length

Skeletal Spine:
sprengel anomaly
supernumerary vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
supernumerary ribs

Skin Nails Hair Skin:
congenital partial albinism (leukoderma) on face, trunk, or limbs
hypopigmented skin lesions

Genitourinary External Genitalia Female:
absent vagina (rare)

Skeletal Skull:
aplasia of posterior semicircular canal on ct scan


Clinical features from OMIM:

193500

Human phenotypes related to Waardenburg Syndrome, Type 1:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
2 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
4 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
7 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
8 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
9 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
10 sprengel anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000912
11 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
12 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
13 telecanthus 59 32 frequent (33%) Very frequent (99-80%) HP:0000506
14 heterochromia iridis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001100
15 premature graying of hair 59 32 hallmark (90%) Frequent (79-30%) HP:0002216
16 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
17 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
18 spina bifida 59 32 Occasional (29-5%) HP:0002414
19 lacrimation abnormality 59 32 frequent (33%) Very frequent (99-80%) HP:0000632
20 white forelock 59 32 frequent (33%) Very frequent (99-80%) HP:0002211
21 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
22 white hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0011364
23 cleft upper lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000204
24 synophrys 59 32 hallmark (90%) Frequent (79-30%) HP:0000664
25 white eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002226
26 white eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0002227
27 congenital sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008527
28 hypertelorism 32 HP:0000316
29 hearing impairment 59 Very frequent (99-80%)
30 abnormal facial shape 32 hallmark (90%) HP:0001999
31 smooth philtrum 32 HP:0000319
32 abnormality of the eye 59 Very frequent (99-80%)
33 malformation of the heart and great vessels 59 Occasional (29-5%)
34 intestinal obstruction 32 occasional (7.5%) HP:0005214
35 prominent nasal bridge 32 hallmark (90%) HP:0000426
36 hypopigmentation of hair 59 Very frequent (99-80%)
37 blue irides 32 HP:0000635
38 conductive hearing impairment 32 hallmark (90%) HP:0000405
39 abnormality of the uterus 32 occasional (7.5%) HP:0000130
40 blepharophimosis 32 HP:0000581
41 hypopigmentation of the fundus 32 HP:0007894
42 abnormality of the hair 59 Frequent (79-30%)
43 supernumerary ribs 32 HP:0005815
44 oral cleft 32 occasional (7.5%) HP:0000202
45 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
46 partial albinism 32 HP:0007443
47 myelomeningocele 32 occasional (7.5%) HP:0002475
48 aplasia/hypoplasia of the colon 32 occasional (7.5%) HP:0100811
49 hypoplastic iris stroma 32 HP:0007990
50 supernumerary vertebrae 32 HP:0002946

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 1:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 CISD2 EDN3 EDNRB MITF PAX3 SNAI2
2 growth/size/body region MP:0005378 10.15 CISD2 EDNRB FN1 MITF PAX3 SNAI2
3 embryo MP:0005380 10.13 EDN3 EDNRB FN1 MITF PAX3 SNAI2
4 integument MP:0010771 10.13 CISD2 EDN3 EDNRB FN1 MITF PAX3
5 endocrine/exocrine gland MP:0005379 10.11 CISD2 EDNRB MITF PAX3 SNAI2 SOX10
6 homeostasis/metabolism MP:0005376 10.11 CISD2 EDNRB FN1 MITF PAX3 SNAI2
7 cellular MP:0005384 10.1 CISD2 EDNRB FN1 MITF PAX3 SOX10
8 craniofacial MP:0005382 10.09 CISD2 EDNRB FN1 MITF PAX3 SNAI2
9 digestive/alimentary MP:0005381 10.08 CISD2 EDN3 EDNRB PAX3 SNAI2 SOX10
10 mortality/aging MP:0010768 10.07 CISD2 EDN3 EDNRB FN1 MITF PAX3
11 nervous system MP:0003631 9.91 CISD2 EDN3 EDNRB FN1 MITF PAX3
12 hearing/vestibular/ear MP:0005377 9.88 CISD2 EDNRB MITF PAX3 TYR
13 limbs/digits/tail MP:0005371 9.88 EDNRB FN1 MITF PAX3 SOX10 TYR
14 pigmentation MP:0001186 9.76 CISD2 EDN3 EDNRB MITF PAX3 SNAI2
15 neoplasm MP:0002006 9.72 EDNRB FN1 PAX3 SOX10 TYR
16 skeleton MP:0005390 9.5 CISD2 EDNRB FN1 MITF PAX3 SNAI2
17 vision/eye MP:0005391 9.1 CISD2 EDNRB MITF PAX3 SNAI2 TYR

Drugs & Therapeutics for Waardenburg Syndrome, Type 1

Drugs for Waardenburg Syndrome, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Not Applicable 51-45-6, 75614-87-8 774
2
Loratadine Approved, Investigational Not Applicable 79794-75-5 3957
3
Ephedrine Approved Not Applicable 299-42-3 9294
4
Imipramine Approved Not Applicable 50-49-7 3696
5
Pseudoephedrine Approved Not Applicable 90-82-4 7028
6
Warfarin Approved 81-81-2 6691 54678486
7 Neurotransmitter Agents Not Applicable
8 Histamine H1 Antagonists Not Applicable
9 Histamine H1 Antagonists, Non-Sedating Not Applicable
10 Antidepressive Agents Not Applicable
11 Anti-Allergic Agents Not Applicable
12 Quetiapine Fumarate Not Applicable 111974-72-2
13 Antipsychotic Agents Not Applicable
14 Antidepressive Agents, Tricyclic Not Applicable
15 Antipruritics Not Applicable
16 Dermatologic Agents Not Applicable
17
Histamine Phosphate Not Applicable 51-74-1 65513
18 Histamine Antagonists Not Applicable
19 Platelet Aggregation Inhibitors
20 Anticoagulants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effectiveness of Qufeng Shengshi Fang on Treatment of Allergic Rhinitis. Unknown status NCT02653339 Not Applicable Qufeng Shengshi Fang and Loratadine;Loratadine
2 Ongoing WARfarin and Coronary STENTing Unknown status NCT00722319
3 Diversity Analysis of Vaginal Microbiota on Women With High-risk Human Papillomavirus Infection Not yet recruiting NCT03548740

Search NIH Clinical Center for Waardenburg Syndrome, Type 1

Cochrane evidence based reviews: waardenburg syndrome

Genetic Tests for Waardenburg Syndrome, Type 1

Genetic tests related to Waardenburg Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 1 29 PAX3

Anatomical Context for Waardenburg Syndrome, Type 1

MalaCards organs/tissues related to Waardenburg Syndrome, Type 1:

41
Eye, Skin, Bone, Colon, Heart, Uterus, Kidney

Publications for Waardenburg Syndrome, Type 1

Articles related to Waardenburg Syndrome, Type 1:

(show all 21)
# Title Authors Year
1
Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1. ( 28502583 )
2018
2
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report. ( 30314436 )
2018
3
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. ( 29224756 )
2017
4
A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1. ( 27081571 )
2016
5
Multiple hyperpigmented patches in Waardenburg syndrome type 1: An unusual presentation. ( 27549871 )
2016
6
WAARDENBURG SYNDROME TYPE 1 AND A RARE FINDING OF ANAL ATRESIA. ( 26852521 )
2015
7
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. ( 23378733 )
2013
8
Waardenburg Syndrome type 1: A case report. ( 22136859 )
2011
9
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. ( 20664692 )
2010
10
Waardenburg syndrome type 1. ( 16638435 )
2006
11
[Clinical and molecular genetic investigation of Waardenburg syndrome type 1]. ( 12666593 )
2003
12
Multicystic dysplastic kidney associated with Waardenburg syndrome type 1. ( 9438657 )
1997
13
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. ( 9067759 )
1997
14
Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1. ( 9017978 )
1997
15
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). ( 9192262 )
1997
16
Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. ( 7825605 )
1995
17
A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1). ( 7833953 )
1994
18
A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family. ( 7902163 )
1993
19
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. ( 8490648 )
1993
20
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. ( 1303193 )
1992
21
Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. ( 1303254 )
1992

Variations for Waardenburg Syndrome, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 1:

75 (show all 23)
# Symbol AA change Variation ID SNP ID
1 PAX3 p.Phe45Leu VAR_003790
2 PAX3 p.Pro50Leu VAR_003793 rs104893650
3 PAX3 p.Arg56Leu VAR_003794 rs267606931
4 PAX3 p.Ile59Phe VAR_003795
5 PAX3 p.Ile59Asn VAR_003796
6 PAX3 p.Val60Met VAR_003797
7 PAX3 p.Met62Val VAR_003798
8 PAX3 p.Gly81Ala VAR_003800 rs587776586
9 PAX3 p.Lys85Glu VAR_003802
10 PAX3 p.Gly99Asp VAR_003803 rs118946342
11 PAX3 p.Phe238Ser VAR_003804
12 PAX3 p.Val265Phe VAR_003805
13 PAX3 p.Arg271Gly VAR_003806
14 PAX3 p.Arg270Cys VAR_013619
15 PAX3 p.Ser73Leu VAR_013640
16 PAX3 p.Gln391His VAR_013641
17 PAX3 p.Gly48Arg VAR_017533
18 PAX3 p.Val78Met VAR_017534
19 PAX3 p.Trp266Cys VAR_017536
20 PAX3 p.Arg271Cys VAR_017537 rs138085878
21 PAX3 p.Arg271His VAR_017538 rs774528745
22 PAX3 p.His80Asp VAR_079619 rs387906947
23 PAX3 p.Leu234Pro VAR_079621

ClinVar genetic disease variations for Waardenburg Syndrome, Type 1:

6 (show top 50) (show all 538)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX3 PAX3, 18-BP DEL, EX2 deletion Pathogenic
2 PAX3 NM_181457.3(PAX3): c.149C> T (p.Pro50Leu) single nucleotide variant Pathogenic rs104893650 GRCh37 Chromosome 2, 223161869: 223161869
3 PAX3 NM_181457.3(PAX3): c.149C> T (p.Pro50Leu) single nucleotide variant Pathogenic rs104893650 GRCh38 Chromosome 2, 222297150: 222297150
4 PAX3 PAX3, 14-BP DEL, EX2 deletion Pathogenic
5 PAX3 PAX3, 1-BP DEL deletion Pathogenic
6 PAX3 PAX3, 2-BP DEL, 556CA deletion Pathogenic
7 PAX3 NM_181457.3(PAX3): c.242G> C (p.Gly81Ala) single nucleotide variant Pathogenic rs587776586 GRCh37 Chromosome 2, 223161776: 223161776
8 PAX3 NM_181457.3(PAX3): c.242G> C (p.Gly81Ala) single nucleotide variant Pathogenic rs587776586 GRCh38 Chromosome 2, 222297057: 222297057
9 PAX3 PAX3, 5-BP DEL, EX5 deletion Pathogenic
10 PAX3 NM_001127366.2(PAX3): c.251C> T (p.Ser84Phe) single nucleotide variant Pathogenic rs104893651 GRCh37 Chromosome 2, 223161767: 223161767
11 PAX3 NM_001127366.2(PAX3): c.251C> T (p.Ser84Phe) single nucleotide variant Pathogenic rs104893651 GRCh38 Chromosome 2, 222297048: 222297048
12 PAX3 NM_181457.3(PAX3): c.167G> T (p.Arg56Leu) single nucleotide variant Pathogenic rs267606931 GRCh37 Chromosome 2, 223161851: 223161851
13 PAX3 NM_181457.3(PAX3): c.167G> T (p.Arg56Leu) single nucleotide variant Pathogenic rs267606931 GRCh38 Chromosome 2, 222297132: 222297132
14 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh37 Chromosome 13, 78492540: 78492540
15 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh38 Chromosome 13, 77918405: 77918405
16 PAX3 NM_181457.3(PAX3): c.238C> G (p.His80Asp) single nucleotide variant Pathogenic rs387906947 GRCh37 Chromosome 2, 223161780: 223161780
17 PAX3 NM_181457.3(PAX3): c.238C> G (p.His80Asp) single nucleotide variant Pathogenic rs387906947 GRCh38 Chromosome 2, 222297061: 222297061
18 PAX3 PAX3, 1-BP DEL, 556C deletion Pathogenic
19 PAX3 NM_181457.3(PAX3): c.241G> T (p.Gly81Cys) single nucleotide variant Uncertain significance rs483353059 GRCh37 Chromosome 2, 223161777: 223161777
20 PAX3 NM_181457.3(PAX3): c.241G> T (p.Gly81Cys) single nucleotide variant Uncertain significance rs483353059 GRCh38 Chromosome 2, 222297058: 222297058
21 PAX3 NM_181457.3(PAX3): c.129T> C (p.Gly43=) single nucleotide variant Benign rs12623857 GRCh37 Chromosome 2, 223161889: 223161889
22 PAX3 NM_181457.3(PAX3): c.129T> C (p.Gly43=) single nucleotide variant Benign rs12623857 GRCh38 Chromosome 2, 222297170: 222297170
23 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh37 Chromosome 2, 223085955: 223085955
24 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh38 Chromosome 2, 222221236: 222221236
25 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh37 Chromosome 13, 78492734: 78492734
26 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh38 Chromosome 13, 77918599: 77918599
27 PAX3 NM_001127366.2(PAX3): c.(?_-77)_(583_?)+547del deletion Pathogenic GRCh37 Chromosome 2, 223158339: 223163411
28 PAX3 NM_001127366.2(PAX3): c.(?_-77)_(583_?)+547del deletion Pathogenic GRCh38 Chromosome 2, 222293620: 222298692
29 PAX3 NM_181457.3(PAX3): c.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh38 Chromosome 2, 222202200: 222202200
30 PAX3 NM_181457.3(PAX3): c.1174-10G> C single nucleotide variant Benign/Likely benign rs2855268 GRCh37 Chromosome 2, 223066919: 223066919
31 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh38 Chromosome 2, 222220310: 222220310
32 PAX3 NM_181457.3(PAX3): c.1003C> T (p.Pro335Ser) single nucleotide variant Benign/Likely benign rs151199924 GRCh37 Chromosome 2, 223085029: 223085029
33 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh37 Chromosome 2, 223086020: 223086020
34 PAX3 NM_181457.3(PAX3): c.879G> T (p.Gly293=) single nucleotide variant Benign/Likely benign rs45522331 GRCh38 Chromosome 2, 222221301: 222221301
35 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh38 Chromosome 2, 222221307: 222221307
36 PAX3 NM_181457.3(PAX3): c.873C> T (p.Pro291=) single nucleotide variant Benign/Likely benign rs141545923 GRCh37 Chromosome 2, 223086026: 223086026
37 PAX3 NM_181457.3(PAX3): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs876657717 GRCh38 Chromosome 2, 222232202: 222232202
38 PAX3 NM_181457.3(PAX3): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs876657717 GRCh37 Chromosome 2, 223096921: 223096921
39 PAX3 NM_181457.3(PAX3): c.525G> C (p.Lys175Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116473352 GRCh38 Chromosome 2, 222294228: 222294228
40 PAX3 NM_181457.3(PAX3): c.525G> C (p.Lys175Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116473352 GRCh37 Chromosome 2, 223158947: 223158947
41 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh37 Chromosome 2, 223161687: 223161687
42 PAX3 NM_181457.3(PAX3): c.321+10C> A single nucleotide variant Benign/Likely benign rs140960868 GRCh38 Chromosome 2, 222296968: 222296968
43 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh37 Chromosome 2, 223161862: 223161862
44 PAX3 NM_181457.3(PAX3): c.156C> G (p.Pro52=) single nucleotide variant Benign/Likely benign rs28945092 GRCh38 Chromosome 2, 222297143: 222297143
45 MITF NM_198159.2(MITF): c.(?_355)-1203_*(78_?)del deletion Pathogenic GRCh38 Chromosome 3, 69936619: 69965326
46 MITF NM_198159.2(MITF): c.(?_355)-1203_*(78_?)del deletion Pathogenic GRCh37 Chromosome 3, 69985770: 70014477
47 MITF NM_198159.2(MITF): c.(?_938)-102_*(78_?)del deletion Pathogenic GRCh38 Chromosome 3, 69956353: 69965326
48 MITF NM_198159.2(MITF): c.(?_938)-102_*(78_?)del deletion Pathogenic GRCh37 Chromosome 3, 70005504: 70014477
49 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh37 Chromosome 3, 69986984: 69986984
50 MITF NM_000248.3(MITF): c.45C> T (p.His15=) single nucleotide variant Benign/Likely benign rs140663277 GRCh38 Chromosome 3, 69937833: 69937833

Expression for Waardenburg Syndrome, Type 1

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 1.

Pathways for Waardenburg Syndrome, Type 1

Pathways related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.07 CISD2 TYR WFS1
2
Show member pathways
11.84 EDNRB MITF TYR
3 11.12 MITF PAX3
4 11.05 EDN3 EDNRB
5 10.93 MITF PAX3 SNAI2 SOX10
6 10.74 MITF PAX3 SOX10
7 10.41 FN1 SNAI2

GO Terms for Waardenburg Syndrome, Type 1

Biological processes related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.78 EDNRB MITF SNAI2 WFS1
2 negative regulation of apoptotic process GO:0043066 9.76 EDNRB MITF SNAI2 SOX10
3 sensory perception of sound GO:0007605 9.58 PAX3 SNAI2 WFS1
4 peripheral nervous system development GO:0007422 9.43 EDNRB SOX10
5 vasoconstriction GO:0042310 9.37 EDN3 EDNRB
6 neural crest cell migration GO:0001755 9.33 EDN3 EDNRB SOX10
7 enteric nervous system development GO:0048484 9.32 EDNRB SOX10
8 vein smooth muscle contraction GO:0014826 9.26 EDN3 EDNRB
9 pigmentation GO:0043473 9.26 EDNRB MITF SNAI2 TYR
10 melanocyte differentiation GO:0030318 8.92 EDN3 EDNRB MITF SOX10

Molecular functions related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 E-box binding GO:0070888 8.96 MITF SNAI2
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.8 MITF SNAI2 SOX10

Sources for Waardenburg Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....